Accession |
SAMC025242 |
Sample name |
ETYY-2M |
Title |
PHA1 rare disease |
Sample type |
Human sample |
Organism |
Homo sapiens |
Description |
WES identify the type of PHA, find SNPs and Indels of the patient. descirbe the genetic patten of the family. |
Attributes |
Isolate
|
whole blood PBMC
|
Age
|
|
Biomaterial provider
|
Yajuan Wang/Department of Neonatal Center, Beijing Children 's Hospital
|
Sex
|
female
|
Tissue
|
blood
|
Disease
|
|
Cell line
|
|
Cell subtype
|
|
Cell type
|
|
Culture collection
|
|
Development stage
|
|
Disease stage
|
|
Ethnicity
|
|
Health State
|
|
Karyotype
|
|
Phenotype
|
|
Population
|
|
Race
|
|
Type
|
|
Treatment
|
|
|
Release date |
2020-02-28 |
BioProject Accession |
PRJCA000774 |
Submitter |
Zongzhi Liu (anke@big.ac.cn)
|
Organization |
Beijing Institute of Genomics, Chinese Academy of Sciences |
Submission date |
2018-02-28 |